AiPD: Autoinhibited Protein Database

Q8NAX2

Gene name	KDF1 (C1orf172)
Protein name	Keratinocyte differentiation factor 1
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:126695
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

1-69 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-69 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q8NAX2

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8NAX2-F1	Predicted				AlphaFoldDB

343 variants for Q8NAX2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
VAR_078070 RCV000416757 CA16044286 rs1057519508	251	F>L	Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type ECTD12; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA339164887 rs1306424911	3	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA710412 rs200247502	3	R>H		No	ClinGen ExAC TOPMed gnomAD
CA339164889 rs1306424911	3	R>S		No	ClinGen TOPMed
rs1570755819 CA339164841	6	H>P		No	ClinGen Ensembl
rs1215994710 CA339164843	6	H>Y		No	ClinGen TOPMed
rs1363056327 CA339164830	7	P>A		No	ClinGen TOPMed
TCGA novel	8	R>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs565917289 CA710411	8	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs548929772 CA710410	8	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA710409 rs768274676	10	A>E		No	ClinGen ExAC gnomAD
CA339164759 rs1377871069	12	G>R		No	ClinGen TOPMed
CA710408 rs375203089	13	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA339164745 rs1203106618	13	P>R		No	ClinGen TOPMed gnomAD
CA710406 rs529561188	15	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs144505487 CA710404	15	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA710405 rs144505487	15	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA339164697 rs1240659379	17	G>A		No	ClinGen gnomAD
rs1240659379 CA339164698	17	G>E		No	ClinGen gnomAD
rs770601582 CA710403	17	G>R		No	ClinGen ExAC gnomAD
rs145806681 CA710402	18	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA339164683 rs145806681	18	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	20	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA710399 rs79374331	21	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA710400 rs756011181	21	R>W		No	ClinGen ExAC TOPMed gnomAD
rs780230453 CA710398	23	T>A		No	ClinGen ExAC gnomAD
rs758740877 CA710397	23	T>R		No	ClinGen ExAC TOPMed gnomAD
rs750638599 CA339164595	24	E>D		No	ClinGen ExAC TOPMed gnomAD
CA19805117 rs1011626133	24	E>K		No	ClinGen TOPMed gnomAD
CA339164600 rs1160142189	24	E>V		No	ClinGen gnomAD
CA339164544 rs1231776865	28	E>A		No	ClinGen TOPMed
CA339164555 rs1175925699	28	E>K		No	ClinGen gnomAD
TCGA novel	30	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA19805096 rs932471700	30	Y>C		No	ClinGen Ensembl
CA339164480 rs1570755664	32	K>N		No	ClinGen Ensembl
CA339164471 rs1247613771	33	P>L		No	ClinGen gnomAD
CA710392 rs369334382	34	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA339164444 rs1288405447	35	Q>R		No	ClinGen gnomAD
CA710391 rs761208100	36	P>S		No	ClinGen ExAC TOPMed gnomAD
CA710390 rs775005166	38	P>S		No	ClinGen ExAC gnomAD
CA339164397 rs1282260823	39	S>G		No	ClinGen gnomAD
CA710389 rs759227084	40	R>C		No	ClinGen ExAC TOPMed gnomAD
CA710387 rs773978155	40	R>H		No	ClinGen ExAC TOPMed gnomAD
CA710388 rs759227084	40	R>S		No	ClinGen ExAC TOPMed gnomAD
COSM907806 CA710386 rs770558931	41	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs143721921 CA710385	41	R>H		No	ClinGen ESP ExAC gnomAD
CA339164356 rs1299651921	42	T>S		No	ClinGen gnomAD
rs199965062 CA19805032	43	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs199965062 CA710382	43	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1156351594 CA339164345	43	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1570755570 CA339164312	46	D>A		No	ClinGen Ensembl
rs780318215 CA710381	47	P>A		No	ClinGen ExAC gnomAD
TCGA novel	51	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA19805001 rs1049224185	52	H>Y		No	ClinGen TOPMed
CA710379 rs746153605	53	H>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1247789887 CA339164225	54	G>E		No	ClinGen TOPMed
CA339164212 rs1178501414	56	E>Q		No	ClinGen TOPMed
TCGA novel	57	S>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1194583670 CA339164195	57	S>T		No	ClinGen gnomAD
TCGA novel	59	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1240391723 CA339164151	61	I>L		No	ClinGen gnomAD
rs919668124 CA19804965	61	I>S		No	ClinGen TOPMed
TCGA novel	61	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA339164129 rs1312899616	62	S>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA710375 rs144535348	65	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs982502162 CA19804963	65	A>V		No	ClinGen TOPMed
TCGA novel	66	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA710374 rs140672463	67	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA710372 rs767081810	68	A>T		No	ClinGen ExAC gnomAD
rs759059288 CA710371	69	L>I		No	ClinGen ExAC gnomAD
TCGA novel	71	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA339164042 rs1286803692	71	S>P		No	ClinGen gnomAD
CA339164028 rs1557686577	72	P>L		No	ClinGen Ensembl
rs773781837 CA710370	72	P>S		No	ClinGen ExAC gnomAD
CA710367 rs368517120	73	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA339164025 rs1570755457	73	T>P		No	ClinGen Ensembl
rs772925863 CA710366	74	C>S		No	ClinGen ExAC TOPMed gnomAD
rs1033950363 CA19804912	79	R>G		No	ClinGen Ensembl
CA710364 rs748161190	79	R>P		No	ClinGen ExAC TOPMed gnomAD
rs748161190 CA339163935	79	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA19804898 rs1001504049	80	P>L		No	ClinGen Ensembl
CA710363 rs776692680	81	W>R		No	ClinGen ExAC gnomAD
rs768659946 CA710362	82	V>M		No	ClinGen ExAC TOPMed gnomAD
rs745948877 CA710361	83	W>L		No	ClinGen ExAC gnomAD
CA339163858 rs1570755408	83	W>R		No	ClinGen Ensembl
CA339163834 rs1242618637	84	E>K		No	ClinGen gnomAD
rs1459944951 CA339163815	85	W>*		No	ClinGen gnomAD
CA339163805 CA710359 rs377299520	85	W>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA710360 rs779015336	85	W>R		No	ClinGen ExAC gnomAD
CA339163792 rs151306106	87	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA710357 rs151306106	87	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145915640 CA710358	87	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA339163791 rs1229680244	88	A>T		No	ClinGen gnomAD
rs1379187949 CA339163780	88	A>V		No	ClinGen gnomAD
rs1335521334 CA339163746	90	F>Y		No	ClinGen gnomAD
CA339163725 rs1303881429	91	C>Y		No	ClinGen gnomAD
CA339163694 rs1419104452	93	R>C		No	ClinGen TOPMed
rs753001226 CA710355	93	R>H		No	ClinGen ExAC gnomAD
CA339163689 rs753001226	93	R>L		No	ClinGen ExAC gnomAD
rs541799014 CA710354	94	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA339163684 rs1332689455	94	R>S		No	ClinGen gnomAD
CA710352 rs148853297	95	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA710350 rs762549436	96	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs765887283 CA710351	96	R>W		No	ClinGen ExAC TOPMed gnomAD
CA710348 rs144301593	99	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs761717950 CA710347	100	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA710346 VAR_032561 rs17360994	100	Q>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA710344 rs760644538	101	R>C		No	ClinGen ExAC TOPMed gnomAD
rs139183337 CA710343	101	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA710342 rs771012694	102	C>R		No	ClinGen ExAC TOPMed gnomAD
CA19804830 rs982450139	102	C>Y		No	ClinGen TOPMed gnomAD
rs749541622 CA339163501	104	A>D		No	ClinGen ExAC gnomAD
rs749541622 CA710341	104	A>G		No	ClinGen ExAC gnomAD
CA710340 rs141234946	105	C>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA339163493 rs141234946	105	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs769935791 CA710339	105	C>Y		No	ClinGen ExAC gnomAD
rs138248574 CA710337	107	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA710338 VAR_032562 rs3010109	107	R>W		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs752071068 CA710335	108	G>*		No	ClinGen ExAC gnomAD
rs779492462 CA710334	108	G>E		No	ClinGen ExAC gnomAD
rs1395249421 CA339163413	110	S>N		No	ClinGen TOPMed
TCGA novel	111	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs367617835 CA19804786	111	P>S		No	ClinGen ESP gnomAD
TCGA novel	112	C>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA339163376 rs1418453799	112	C>F		No	ClinGen gnomAD
rs1418453799 CA339163378	112	C>S		No	ClinGen gnomAD
rs1248101168 CA339163346	114	S>P		No	ClinGen gnomAD
rs749842745 CA710332	115	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1260821198 CA339163264	118	S>T		No	ClinGen gnomAD
CA339163242 rs1206217498	119	T>A		No	ClinGen TOPMed
rs761519934 CA710330	120	E>K		No	ClinGen ExAC gnomAD
CA339163190 rs753712013	121	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	121	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA710329 rs753712013	121	G>V		No	ClinGen ExAC gnomAD
TCGA novel	122	T>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1387693335 CA339163100	125	A>G		No	ClinGen gnomAD
rs1345345856 CA339163068	127	W>R		No	ClinGen gnomAD
CA339163051 rs1301452100	128	A>P		No	ClinGen TOPMed gnomAD
CA339163052 rs1301452100	128	A>T		No	ClinGen TOPMed gnomAD
CA710327 rs199725807	129	K>E		No	ClinGen ExAC TOPMed gnomAD
CA339163030 rs770975636	129	K>N		No	ClinGen ExAC gnomAD
CA710326 rs371974787	129	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1034227152 CA19804713	130	E>G		No	ClinGen Ensembl
rs534821230 CA339163002	131	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs748346371 CA710321	132	N>K		No	ClinGen ExAC TOPMed gnomAD
rs770025779 CA710322	132	N>S		No	ClinGen ExAC TOPMed gnomAD
CA339162971 rs1557686323	133	G>E		No	ClinGen Ensembl
rs768999890 CA710319	134	V>G		No	ClinGen ExAC gnomAD
rs781573827 CA710320	134	V>L		No	ClinGen ExAC gnomAD
CA710318 rs747525165	135	P>S		No	ClinGen ExAC gnomAD
rs747525165 CA339162943	135	P>T		No	ClinGen ExAC gnomAD
CA339162900 rs939725374	136	P>L		No	ClinGen TOPMed gnomAD
CA19804653 rs939725374	136	P>R		No	ClinGen TOPMed gnomAD
rs752617278	137	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758768470 CA710315	137	S>I		No	ClinGen ExAC TOPMed gnomAD
rs752617278	137	S>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1323198695 CA339162821	139	D>E		No	ClinGen gnomAD
CA339162815 rs368075916	140	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs377413091 CA710313	140	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA710314 rs368075916	140	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA710312 rs757023061	141	A>T		No	ClinGen ExAC gnomAD
CA710309 rs760507136	142	P>L		No	ClinGen ExAC TOPMed gnomAD
CA710310 rs369366004	142	P>S		No	ClinGen ExAC TOPMed gnomAD
CA19804615 rs1009596067	143	P>S		No	ClinGen TOPMed
rs550041376 CA710305	145	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV000964106 rs150246438 CA710306	145	R>W		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA710304 rs765268716	146	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1373270171 CA339162698	147	D>N		No	ClinGen gnomAD
rs1192106949 CA339162676	148	G>V		No	ClinGen gnomAD
rs1444707756 CA339162668	149	Q>*		No	ClinGen gnomAD
CA710301 rs768805849	150	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs201518791 CA710303	150	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs564540710 CA710300	152	K>M		No	ClinGen 1000Genomes ExAC gnomAD
rs547943153 CA710299	152	K>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1220825302 CA339162614	153	S>A		No	ClinGen gnomAD
rs778611060 CA710296	155	M>I		No	ClinGen ExAC gnomAD
CA710297 rs565350870	155	M>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs147716816 CA710298	155	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1342284055 CA339162580	156	G>S		No	ClinGen gnomAD
rs756824633 CA710295	160	S>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	166	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA710292 rs755657572	171	V>L		No	ClinGen ExAC gnomAD
CA339162295 rs1411441965	173	P>T		No	ClinGen TOPMed gnomAD
rs767193569 CA710290	175	P>L		No	ClinGen ExAC TOPMed gnomAD
CA710287 rs765356214	177	A>D		No	ClinGen ExAC TOPMed gnomAD
CA710288 rs751490034	177	A>S		No	ClinGen ExAC gnomAD
rs887047479 CA19804373	178	T>I		No	ClinGen Ensembl
rs1570754880 CA339162205	178	T>P		No	ClinGen Ensembl
CA339162158 rs1443532206	180	P>S		No	ClinGen gnomAD
rs761892290 CA710286	183	D>H		No	ClinGen ExAC gnomAD
rs199575697 CA710285	184	A>G		No	ClinGen 1000Genomes ExAC gnomAD
CA339162083 rs1201149191	184	A>T		No	ClinGen TOPMed gnomAD
CA710284 rs199575697	184	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1170965711 CA339162057	185	D>A		No	ClinGen TOPMed
rs1018990840 CA19804343	186	S>F		No	ClinGen TOPMed gnomAD
rs34291506 VAR_032563 CA710281 RCV000891334	189	K>R		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs149743404 CA710279	190	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs746444382 CA710280	190	E>K		No	ClinGen ExAC gnomAD
CA339161921 rs1312743402	192	L>P		No	ClinGen gnomAD
rs748813446 CA710277	194	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA339161862 rs1439642365	195	P>H		No	ClinGen TOPMed
rs777367914 CA710275	196	P>R		No	ClinGen ExAC TOPMed gnomAD
CA19804270 rs376036605	196	P>S		No	ClinGen Ensembl
CA710273 rs747723043	197	P>T		No	ClinGen ExAC TOPMed gnomAD
CA339161799 rs1382860363	198	M>I		No	ClinGen gnomAD
rs781107975 CA710272	198	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs754712166 CA710271	199	R>*		No	ClinGen ExAC gnomAD
rs751293758 CA710270	199	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs766306128 CA339161755	201	S>R		No	ClinGen ExAC TOPMed gnomAD
CA339161698 rs1180072361	204	S>T		No	ClinGen gnomAD
rs145994096 CA710267	205	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA710266 rs374676574	208	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA339161591 rs1274898072	210	P>T		No	ClinGen gnomAD
rs772927829 CA710265	211	R>C		No	ClinGen ExAC gnomAD
CA710264 rs761001620 COSM907804	211	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs767984255 CA710263	212	G>D		No	ClinGen ExAC TOPMed gnomAD
CA710262 rs767984255	212	G>V		No	ClinGen ExAC TOPMed gnomAD
CA710259 rs771599585	214	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA339161503 rs1439734183	215	E>K		No	ClinGen gnomAD
TCGA novel	216	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1570754718 CA339161478	216	Y>D		No	ClinGen Ensembl
rs771990259 CA710256	217	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA339161458 rs771990259	217	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA710255 rs141390568	219	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA339161421 rs1193215684	219	F>S		No	ClinGen TOPMed
COSM215551 rs894118968 CA19804118	222	S>L	Variant assessed as Somatic; 0.0 impact. NS [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1570754681 CA339161343	223	D>A		No	ClinGen Ensembl
rs746835693 CA710252	223	D>Y		No	ClinGen ExAC gnomAD
CA339161305 rs1570754676	225	D>A		No	ClinGen Ensembl
CA19804113 rs369086580	225	D>E		No	ClinGen ESP TOPMed gnomAD
rs1222040567 CA339161265	227	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA339161267 rs1222040567	227	P>R		No	ClinGen TOPMed
rs779779172 CA710251	227	P>S		No	ClinGen ExAC gnomAD
rs374964459 CA710249	228	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	229	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1489929248 CA339161211	230	G>S		No	ClinGen gnomAD
rs777979399 CA710248	231	S>G		No	ClinGen ExAC TOPMed gnomAD
rs756134971 CA710247	232	G>S		No	ClinGen ExAC TOPMed gnomAD
CA339160080 rs1283470177	234	M>I		No	ClinGen gnomAD
rs1570754629 CA339161145	234	M>L		No	ClinGen Ensembl
rs1446555798 CA339160090	234	M>T		No	ClinGen gnomAD
COSM907802 CA710246 rs371743170	235	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs761634533 CA19804074	236	S>R		No	ClinGen Ensembl
CA339160027 rs758651584	237	R>P		No	ClinGen gnomAD
CA19804071 rs758651584	237	R>Q		No	ClinGen gnomAD
CA710242 rs766818287	242	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA710241 rs763620227	244	F>L		No	ClinGen ExAC gnomAD
TCGA novel	249	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA710239 rs770274619	253	V>I		No	ClinGen ExAC gnomAD
rs761230977 CA710238	257	D>N		No	ClinGen ExAC gnomAD
rs1046987033 CA19804016	259	L>M		No	ClinGen gnomAD
rs1485546031 CA339159602	263	T>S		No	ClinGen gnomAD
CA710234 rs555440089	273	S>I		No	ClinGen 1000Genomes ExAC gnomAD
CA19803998 rs555440089	273	S>N		No	ClinGen 1000Genomes ExAC gnomAD
CA339159439 rs1489265925	277	D>G		No	ClinGen TOPMed
rs778729019 CA710231	279	I>S		No	ClinGen ExAC gnomAD
rs757152014 CA710230	282	I>V		No	ClinGen ExAC TOPMed gnomAD
rs372248277 CA710229	283	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA710227 rs755290067	284	Q>H		No	ClinGen ExAC gnomAD
CA339159384 rs1267926055	285	D>Y		No	ClinGen gnomAD
rs751825325 CA710226	292	D>V		No	ClinGen ExAC gnomAD
TCGA novel	293	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA710225 rs368880136	294	E>K		No	ClinGen ESP ExAC gnomAD
rs1468559178 CA339159303	296	R>C		No	ClinGen gnomAD
rs1356645212 CA339159300	296	R>L		No	ClinGen TOPMed gnomAD
rs1570754402 CA339159296	297	L>P		No	ClinGen Ensembl
rs1557685822 CA339159293	298	V>L		No	ClinGen Ensembl
rs1428166482 CA339159286	299	R>C		No	ClinGen gnomAD
CA710223 rs750729459	299	R>H		No	ClinGen ExAC gnomAD
CA710221 rs762329870	300	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs878913460 CA19803913	301	I>S		No	ClinGen Ensembl
CA339159277 rs1182987192	301	I>V		No	ClinGen gnomAD
CA710219 rs763566861	302	I>V		No	ClinGen ExAC gnomAD
CA710218 rs760390089	303	R>H		No	ClinGen ExAC gnomAD
rs775113713 CA710217	307	R>G		No	ClinGen ExAC gnomAD
rs1306524391 CA339159239	307	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1247514208 CA339159232	308	K>R		No	ClinGen gnomAD
CA710214 rs774156596	310	R>C		No	ClinGen ExAC TOPMed gnomAD
rs150297466 CA710213 COSM1320234	310	R>H	ovary [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs749216836 CA710212	311	A>S		No	ClinGen ExAC gnomAD
CA710211 rs781487247	311	A>V		No	ClinGen ExAC gnomAD
rs1299130029 CA339159210	312	R>C		No	ClinGen TOPMed gnomAD
COSM32644 CA710210 rs755094201 VAR_035616	312	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium a colorectal cancer sample; somatic mutation [NCI-TCGA, Cosmic, UniProt]	No	ClinGen cosmic curated UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA339159200 rs747027074	314	Q>*		No	ClinGen ExAC gnomAD
CA710209 rs747027074	314	Q>E		No	ClinGen ExAC gnomAD
rs1409661383 CA339159195	314	Q>H		No	ClinGen TOPMed
CA710208 rs780424265	316	S>L		No	ClinGen ExAC TOPMed gnomAD
rs780155303 CA19803887	317	E>K		No	ClinGen TOPMed gnomAD
CA710206 rs750772780	319	R>C		No	ClinGen ExAC gnomAD
CA710205 rs145055719	319	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1177543751 CA339159155	321	T>I		No	ClinGen gnomAD
rs1252625327 CA339159160	321	T>P		No	ClinGen gnomAD
CA339159153 rs1249155593	322	R>Q		No	ClinGen TOPMed gnomAD
rs370336022 CA19803876	322	R>W		No	ClinGen ESP TOPMed gnomAD
CA339159133 rs754368453	325	A>P		No	ClinGen ExAC gnomAD
CA710203 rs754368453	325	A>T		No	ClinGen ExAC gnomAD
CA339159130 rs1290427750	325	A>V		No	ClinGen gnomAD
rs1243202771 CA339159111	327	T>N		No	ClinGen gnomAD
CA339159113 rs1570754236	327	T>P		No	ClinGen Ensembl
CA710201 rs760195823	328	A>T		No	ClinGen ExAC TOPMed gnomAD
CA19803822 rs955641715	329	A>P		No	ClinGen Ensembl
rs1391168455 CA339159089	329	A>V		No	ClinGen gnomAD
TCGA novel	330	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1371717230 CA339159075	331	P>A		No	ClinGen gnomAD
rs1305120866 CA339159070	331	P>R		No	ClinGen gnomAD
rs1443795367 CA339159049	333	S>N		No	ClinGen gnomAD
CA339159004 rs1161711556	337	T>I		No	ClinGen gnomAD
rs767189794 CA710198	338	M>T		No	ClinGen ExAC gnomAD
CA710197 rs759180556	340	G>D		No	ClinGen ExAC gnomAD
rs774065018 CA710196	342	G>D		No	ClinGen ExAC gnomAD
CA339158913 rs1463908338	349	T>I		No	ClinGen gnomAD
CA339158915 rs1463908338	349	T>K		No	ClinGen gnomAD
rs1463908338 CA339158914	349	T>R		No	ClinGen gnomAD
CA710180 rs370854419	351	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA710178 rs751208270	356	T>M		No	ClinGen ExAC TOPMed gnomAD
CA339158853 rs1327048298	357	T>S		No	ClinGen gnomAD
rs1433039862 CA339158816 COSM1341455	360	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA339158802 rs1338685304	362	A>T		No	ClinGen gnomAD
rs769873686 CA710174	363	R>G		No	ClinGen ExAC gnomAD
CA710173 rs761818314	363	R>Q		No	ClinGen ExAC gnomAD
CA710171 rs376717814	370	A>T		No	ClinGen ESP ExAC gnomAD
rs746135711 CA710170	370	A>V		No	ClinGen ExAC
CA339158711 rs1191811766	371	P>L		No	ClinGen gnomAD
rs1361176121 CA339158649	372	G>E		No	ClinGen TOPMed
rs1570753301 CA339158637	373	Y>S		No	ClinGen Ensembl
CA710144 rs184302730	374	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA710143 rs755395860	375	A>E		No	ClinGen ExAC gnomAD
CA339158575 rs1412246723	377	H>R		No	ClinGen gnomAD
TCGA novel	379	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779407973 CA710141	379	S>L		No	ClinGen ExAC gnomAD
CA710140 rs201399957	380	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1180230314 CA339158524	381	F>S		No	ClinGen gnomAD
CA710139 rs144075796	383	G>D		No	ClinGen ESP ExAC gnomAD
CA710137 rs200294153	385	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1450005457 CA339158414	386	T>K		No	ClinGen gnomAD
rs374830839 CA710136	388	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA710133 rs369560483	389	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA710131 rs139710191	391	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	391	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1346981782 CA339158288	392	P>R		No	ClinGen gnomAD
CA19802812 rs201673543	394	L>F		No	ClinGen TOPMed
CA710129 rs769933905	396	V>M		No	ClinGen ExAC gnomAD
rs1570753145 CA339158113	399	C>Y		No	ClinGen Ensembl

1 associated diseases with Q8NAX2

[MIM: 617337]: Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type (ECTD12)

A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD12 is an autosomal dominant, hypohidrotic form characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth, and the inability to sweat due to defective development of sweat glands. {ECO:0000269|PubMed:27838789}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Without disease ID

A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD12 is an autosomal dominant, hypohidrotic form characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth, and the inability to sweat due to defective development of sweat glands. {ECO:0000269|PubMed:27838789}. Note=The disease may be caused by variants affecting the gene represented in this entry.

No regional properties for Q8NAX2

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q8NAX2

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Cell junction	Localized at cell borders in single layered keratinocytes Localized at cell borders in the basal and spinous layers but is more diffusely localized in the granular layer Colocalized with actin near the cell membrane, especially in cellular protrusions (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
anchoring junction	A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.
cell cortex	The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins.
cell junction	A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella.
cell leading edge	The area of a motile cell closest to the direction of movement.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

11 GO annotations of biological process

Name	Definition
developmental growth	The increase in size or mass of an entire organism, a part of an organism or a cell, where the increase in size or mass has the specific outcome of the progression of the organism over time from one condition to another.
establishment of skin barrier	Establishment of the epithelial barrier, the functional barrier in the skin that limits its permeability.
keratinocyte development	The process whose specific outcome is the progression of a keratinocyte over time, from its formation to the mature structure.
keratinocyte proliferation	The multiplication or reproduction of keratinocytes, resulting in the expansion of a cell population. Keratinocytes are epidermal cells which synthesize keratin and undergo a characteristic change as they move upward from the basal layers of the epidermis to the cornified (horny) layer of the skin.
limb epidermis development	The process whose specific outcome is the progression of the epidermis of the limb over time, from its formation to the mature structure. The limb epidermis is the outer epithelial layer of the limb, it is a complex stratified squamous epithelium.
morphogenesis of embryonic epithelium	The process in which the anatomical structures of embryonic epithelia are generated and organized.
negative regulation of keratinocyte proliferation	Any process that decreases the rate, frequency or extent of keratinocyte proliferation. Keratinocyte proliferation is the multiplication or reproduction of keratinocytes, resulting in the expansion of a cell population.
negative regulation of stem cell proliferation	Any process that stops, prevents or reduces the frequency, rate or extent of stem cell proliferation.
positive regulation of epidermal cell differentiation	Any process that activates or increases the frequency, rate or extent of epidermal cell differentiation.
regulation of epidermal cell division	Any process that modulates the frequency, rate or extent of the physical partitioning and separation of an epidermal cell into daughter cells. An epidermal cell is any of the cells that make up the epidermis.
stem cell proliferation	The multiplication or reproduction of stem cells, resulting in the expansion of a stem cell population. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A2A9F4	Kdf1	Keratinocyte differentiation factor 1	Mus musculus (Mouse)	PR
Q6AY88	Kdf1	Keratinocyte differentiation factor 1	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MPRPGHPRPA	SGPPRLGPWE	RPTELCLETY	DKPPQPPPSR	RTRRPDPKDP	GHHGPESITF
70	80	90	100	110	120
ISGSAEPALE	SPTCCLLWRP	WVWEWCRAAF	CFRRCRDCLQ	RCGACVRGCS	PCLSTEDSTE
130	140	150	160	170	180
GTAEANWAKE	HNGVPPSPDR	APPSRRDGQR	LKSTMGSSFS	YPDVKLKGIP	VYPYPRATSP
190	200	210	220	230	240
APDADSCCKE	PLADPPPMRH	SLPSTFASSP	RGSEEYYSFH	ESDLDLPEMG	SGSMSSREID
250	260	270	280	290	300
VLIFKKLTEL	FSVHQIDELA	KCTSDTVFLE	KTSKISDLIS	SITQDYHLDE	QDAEGRLVRG
310	320	330	340	350	360
IIRISTRKSR	ARPQTSEGRS	TRAAAPTAAA	PDSGHETMVG	SGLSQDELTV	QISQETTADA
370	380	390
IARKLRPYGA	PGYPASHDSS	FQGTDTDSSG	APLLQVYC