1. Gene
  2. EPPIN - epididymal peptidase inhibitor Gene

EPPIN - epididymal peptidase inhibitor Gene

Homo sapiens

Also known as CT71; CT72; WAP7; WFDC7; SPINLW1; dJ461P17.2

Gene ID: 57119 | Gene type: protein coding

About EPPIN

Cytogenetic location: 20q13.12 Genomic coordinates (GRCh38): 20:45,540,626-45,547,401 (from NCBI)

This gene has 4 transcripts (splice variants), 572 orthologues and 13 paralogues. Restricted expression toward testis (RPKM 44.7).

Summary

This gene encodes an epididymal protease inhibitor, which contains both kunitz-type and WAP-type four-disulfide core (WFDC) protease inhibitor consensus sequences. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene is a member of the WFDC gene family and belongs to the telomeric cluster. The protein can inhibit human sperm motility and exhibits antimicrobial activity against E. coli, and polymorphisms in this gene are associated with male infertility. Read-through transcription also exists between this gene and the downstream WFDC6 (WAP four-disulfide core domain 6) gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]

EPPIN Products(2)

mRNA Protein Name
NM_001302861.2 NP_001289790.1 eppin isoform 2 precursor
NM_020398.4 NP_065131.1 eppin isoform 1 precursor

EPPIN Protein Structure

WAP

WAP: WAP-type (Whey Acidic Protein) 'four-disulfide core' (30 - 71)

Kunitz_BPTI

Kunitz_BPTI: Kunitz/Bovine pancreatic trypsin inhibitor domain (76 - 128)

  • 0
  • 100
  • 133 a.a.
Protein Preferred Names Protein Names

eppin

WAP four-disulfide core domain protein 7

Related Diseases

Diseases Alias
Infertility
Male Infertility

Infertility, Male

Infertility Male

Male Sterility

Absolute Infertility

Prostatic Cyst

Cyst Of Prostate

Atrophy Of Prostate
Orchitis

Inflammation Of Testis

Orchititis

Mumps Orchitis

Hypogonadotropic Hypogonadism 23 With Or Without Anosmia

Fertile Eunuch Syndrome

Pasqualini Syndrome

HH23

46,Xy Disorder Of Sex Development Due To Lhb Deficiency

46,Xy Disorder Of Sex Development Due To Luteinizing Hormone Subunit Beta Deficiency

46,Xy Dsd Due To Lhb Deficiency

46,Xy Dsd Due To Luteinizing Hormone Subunit Beta Deficiency

Leydig Cell Hypoplasia Due To Lhb Deficiency

Leydig Cell Hypoplasia Due To Luteinizing Hormone Subunit Beta Deficiency

Eunuchoidism With Spermatogenesis, Normal Fsh And Low Or Normal Interstitial Cell-Stimulating Hormone

Hypogonadism, Hypogonadotropic, Type 23, With/Without Anosmia

Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects

Cornelia De Lange Syndrome 4

CDLS4

Cornelia De Lange Syndrome, Type 4

Epididymis Disease
Spastic Paraplegia 14, Autosomal Recessive

SPG14

Hereditary Spastic Paraplegia 14

Autosomal Recessive Spastic Paraplegia Type 14

Autosomal Recessive Spastic Paraplegia 14

Spastic Paraplegia 14

Pelvic Varices

Varix Of Pelvis

Pelvic Varicose Vein

Hypoglycemic Coma
Bladder Diverticulum

Diverticulum Of Bladder

Diverticulum - Bladder

Bladder Diverticula

Vesical Diverticulum

Bladder Sacculation

Spermatogenic Failure, X-Linked, 1

Sertoli Cell-Only Syndrome

Germinal Cell Aplasia

Del Castillo Syndrome

SPGFX1

X-Linked Spermatogenic Failure 1

Congenital Absence Of Germinal Epithelium Of Testes

Spermatogenic Failure 9

Male Infertility Due To Globozoospermia

SPGF9

Male Infertility Due To Round-Headed Spermatozoa

Globozoospermia, Complete

Globozoospermia, Total

Globozoospermia

Globozoospermia Syndrome

Round-Headed Sperm Syndrome

Globozoospermia Complete

Globozoospermia Total

Latex Allergy
Prostatic Hypertrophy

Benign Prostatic Hypertrophy

Prostatic Hyperplasia

Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

Atr-X Syndrome

Atr, Nondeletion Type

Alpha-Thalassemia X-Linked Intellectual Disability Syndrome

Atrx Syndrome

Alpha-Thalassemia/Mental Retardation Syndrome Nondeletion Type

Alpha Thalassemia Intellectual Disability Syndrome, Nondeletion Type, X-Linked

X-Linked Alpha-Thalassemia/Intellectual Disability Syndrome

Xlmr Hypotonic Face Syndrome

Alpha Thalassemia X-Linked Intellectual Disability Syndrome

Alpha Thalassemia X-Linked Mental Retardation Syndrome

Alpha Thalassemia/Mental Retardation, X-Linked

Alpha-Thalassemia X-Linked Mental Retardation Syndrome

Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type

X-Linked Alpha-Thalassemia/Mental Retardation Syndrome

Xlmr-Hypotonic Face Syndrome

Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome

Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type, X-Linked

Phosphoglycerate Kinase 1 Deficiency

Pgk1 Deficiency

Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency

Phosphoglycerate Kinase Deficiency

Pgk Deficiency

Glycogenosis Due To Phosphoglycerate Kinase 1 Deficiency

Gsd Due To Phosphoglycerate Kinase 1 Deficiency

Deficiency Of Phosphoglycerate Kinase

PGK1D

Deficiency, Phosphoglycerate Kinase 1

Leydig Cell Hypoplasia

46,Xy Disorder Of Sex Development Due To Lh Resistance Or Lhb Deficiency

46,Xy Disorder Of Sex Development Due To Luteinizing Hormone Resistance Or Luteinizing Hormone Beta Subunit Deficiency

46,Xy Dsd Due To Lh Resistance Or Lhb Deficiency

46,Xy Dsd Due To Luteinizing Hormone Resistance Or Luteinizing Hormone Beta Subunit Deficiency

46,Xy Disorder Of Sex Development Due To Lh Defects

Lh Resistance Due To Lh Receptor Deactivation

Leydig Cell Agenesis

Male Hypergonadotropic Hypogonadism Due To Lhcgr Defect

Male Pseudohermaphroditism Due To Lh Resistance Or Lhb Deficiency

Male Pseudohermaphroditism Due To Luteinizing Hormone Resistance Or Luteinizing Hormone Beta Subunit Deficiency

Lch

Hypoplasia, Leydig Cell

Luteoma

Leuteoma Of Pregnancy

Luteoma Of Pregnancy

Adrenal Rest Tumor

Adrenal Rest Neoplasm

Male Reproductive System Disease

Genital Diseases, Male

Disorder Of Male Reproductive System

Testicular Disease

Testicular Dysfunction

Testicular Diseases

Disorder Of Testis

Testis Disorder

Testicular Disorders

Ovarian Sex-Cord Stromal Tumor

Ovarian Sex Cord Tumor With Annular Tubules

Ovarian Sex Cord-Stromal Tumor

Stromal Tumor Of Ovary

Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism

Testicular Torsion

Spermatic Cord Torsion

Torsion Of Testis

Torsion Of Testicular Cord

Torsion Of Testicle

Torsion Of Spermatic Cord

Torsion Of Spermatic Cord Nos

Oligospermia
Ovarian Benign Neoplasm

Benign Ovarian Neoplasm

Reproductive System Disease

Abnormality Of The Genital System

Genital System Disease

Reproductive System Disorder

Adrenal Cortex Disease

Adrenal Cortex Diseases

Alveolar Echinococcosis

Echinococcus Multilocularis Infection

Echinococcosis

Alveolococcosis

Multilocular Hydatid

Small Fox Tapeworm

Embryonal Testis Carcinoma

Testicular Embryonal Carcinoma

Embryonal Carcinoma Of Testis

Embryonal Carcinoma Of The Testis

Androgen Insensitivity, Partial

Partial Androgen Insensitivity Syndrome

Reifenstein Syndrome

PAIS

Androgen Insensitivity, Partial, With Or Without Breast Cancer

Familial Incomplete Male Pseudohermaphroditism, Type 1

Androgen Insensitivity Syndrome, Partial

Androgen Resistance Syndrome, Partial

Reifenstein Syndrome, Partial

Partial Androgen Resistance Syndrome

Androgen Insensitivity Partial With Or Without Breast Cancer

Androgen Insensitivity Syndrome Partial

Insensitivity Syndrome, Androgen, Partial, With/Without Breast Cancer Syndrome

Ovarian Disease

Ovarian Dysfunction

Ovarian Diseases

Ovarian Disorders

Disorder Of Endocrine Ovary

Signet Ring Cell Adenocarcinoma

Signet Ring Cell Carcinoma

Carcinoma, Signet Ring Cell

Signet Ring Carcinoma

Carcinoma Signet Ring Cell

Uterine Benign Neoplasm
Reproductive Organ Benign Neoplasm
Adrenal Hypoplasia, Congenital

X-Linked Adrenal Hypoplasia Congenita

Congenital Adrenal Hypoplasia

AHC

Adrenal Hypoplasia, Congenital, With Hypogonadotropic Hypogonadism

Adrenal Hypoplasia Congenita

X-Linked Ahc

Ahch

Ahx

Ahc With Hhg

Cytomegalic Adrenocortical Hypoplasia

Ahc With Isolated Gonadotropin Deficiency

X-Linked Congenital Adrenal Hypoplasia

Congenital Adrenal Hypoplasia, X-Linked

Addison Disease, X-Linked

Primary Adrenal Hypoplasia

Adrenal Hypoplasia Congenital, X-Linked

X-Linked Addison Disease

X-Linked Adrenal Hypoplasia Congenital

Congenital Hypoplasia Of Adrenal Gland

Congenital Adrenal Gland Hypoplasia

Congenital Small Adrenal Gland

Adrenal Hypoplasia

Cah - [Congenital Adrenal Hypoplasia]

Pseudohermaphroditism

Indeterminate Sex And Pseudohermaphroditism

Aromatase Excess Syndrome

AEXS

Increased Aromatase Activity

Familial Hyperestrogenism

Hereditary Prepubertal Gynecomastia

Aromatase Activity, Increased

Familial Gynecomastia Due To Increased Aromatase Activity

Hereditary Gynecomastia

Gynecomastia, Familial

Familial Gynecomastia

Spastic Paraplegia 2, X-Linked

SPG2

Hereditary Spastic Paraplegia 2

Sppx2

Spastic Paraplegia Type 2

Spastic Paraplegia 2

Hereditary X-Linked Recessive Spastic Paraplegia

X-Linked Spastic Paraplegia 2

X Linked Recessive Hereditary Spastic Paraplegia

Spastic Gait Type 2

Spastic Paraparesis Type 2

X-Linked Spastic Paraplegia Type 2

Spastic Paraplegia Type 2, X-Linked

Spastic Paraplegia-2

Paraplegia, Spastic, Type 2

Cryptorchidism, Unilateral Or Bilateral

Cryptorchidism

Undescended Testicle

Undescended Testis

Cryptorchism

Undescended Testicles

CRYPTO

Impaired Testicular Descent

Cryptosporidiosis

Retained Testis

Unilateral Cryptorchidism

Unilateral Undescended Testis

Nondescent Unilateral Testicle

Unilateral Cryptorchism

Ectopic Testis, Unilateral

Bilateral Cryptorchidism

Bilateral Cryptorchism

Bilateral Nondescent Testicle

Bilateral Undescended Testes

Bilateral Ectopic Testes

Adrenal Adenoma

Adenoma Of The Adrenal Gland

Adrenal Incidentaloma

Adrenal Cortical Adenoma

Adrenocortical Adenoma

Hydrocele

Testicular Hydrocele

Disorder Of Sexual Development

Disorder Of Sex Development

Disorders Of Sex Development

Sex Development Disorder

Sex Differentiation Disease

Dsd

Sex Differentiation Disorders

Hypokalemia

Potassium Deficiency

Potassium Deficiency Disorder

Hypopotassemia

Potassium

Potassium [K] Deficiency

Hypokalaemic Syndrome

Hypopotassaemia

Hypopotassaemia Syndrome

Hypokalaemic

Potassium Depletion

Androgen Insensitivity Syndrome

Androgen Resistance Syndrome

AIS

Testicular Feminization Syndrome

Androgen Receptor Deficiency

Dhtr Deficiency

Dihydrotestosterone Receptor Deficiency

Ar Deficiency

Testicular Feminization

Tfm

Androgen Insensitivity

Androgen-Insensitivity Syndrome

Goldberg-Maxwell Syndrome

Complete Androgen Insensitivity Syndrome

Cais

Feminisation - Testicular

Goldberg - Maxwell Syndrome

Androgen Insensitivity Syndrome, Complete

Morris Syndrome

Ary

AR

Insensitivity Syndrome, Androgen

Androgen Insensitivity Nos

Masa Syndrome

L1 Syndrome

Crash Syndrome

X-Linked Hydrocephalus Syndrome

SPG1

Gareis-Mason Syndrome

Spastic Paraplegia 1, X-Linked

Corpus Callosum Hypoplasia-Retardation-Adducted Thumbs-Spasticity-Hydrocephalus Syndrome

L1cam Syndrome

Spastic Paraplegia 1

Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs

Clasped Thumb And Mental Retardation

Thumb, Congenital Clasped, With Mental Retardation

Adducted Thumb With Mental Retardation

Hereditary Spastic Paraplegia 1

X-Linked Complicated Hereditary Spastic Paraplegia Type 1

X-Linked Corpus Callosum Agenesis

X-Linked Spastic Paraplegia 1

L1 Disease

X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis

Adducted Thumb With Intellectual Disability

Clasped Thumb And Intellectual Disability

Intellectual Disability Aphasia Shuffling Gait Adducted Thumbs

Thumb Congenital Clasped With Intellectual Disability

X-Linked Intellectual Disability-Corpus Callosum Agenesis-Spastic Quadriparesis Syndrome

Adducted Thumbs-Mental Retardation Syndrome

Corpus Callosum Hypoplasia, Mental Retardation, Adducted Thumbs, Spastic Paraplegia, Hydrocephalus Syndrome

Mental Retardation-Clasped Thumb Syndrome

Intellectual Disability-Aphasia-Shuffling Gait-Adducted Thumbs Syndrome

Spastic Paraplegia Type 1, X-Linked

MASA

Corpus Callosum Hypoplasia-Psychomotor Retardation, Adducted Thumbs-Spastic Paraparesis-Hydrocephalus

Crash

Masa Syndrome

Adrenal Cortical Carcinoma

Adrenocortical Carcinoma

Adrenal Cortex Carcinoma

Carcinoma Of The Adrenal Cortex

Acc

Adrenocortical Cancer

Carcinoma Adrenocortical

Alpha-Thalassemia

Alpha Thalassemia

Alpha Thalassaemia

Alpha Plus Thalassemia

Thalassemia, Alpha-

Thalassemias, Alpha-

A-Thalassemia

Α-Thalassemia

A-THAL

Thalassemia

Alpha Thalassaemia Syndrome

Wilms Tumor 1

Nephroblastoma

Wilms Tumor

WT1

Wilms' Tumor

Bilateral Wilms Tumor

Wilms Tumor, Type 1

Wilms Tumor, Somatic

Adult Nephroblastoma

Wt1 Disorder

Renal Embryonic Tumor

Adult Kidney Wilms Tumor

Childhood Kidney Wilms Tumor

Nonanaplastic Kidney Wilms Tumor

Testicular Cancer

Testis Cancer

Testicular Carcinoma

Testicular Neoplasms

Malignant Neoplasm Of Testis

Childhood Neoplasm Of The Testis

Neoplasm Of Testis

Pediatric Testicular Neoplasm

Testicular Tumor

Testis Neoplasm

Testicular Tumors

Testicular Neoplasm

Testicular Malignant Germ Cell Tumor

Childhood Testicular Neoplasm

Carcinoma Of The Testis

Cancer Of Testis

Malignant Neoplasm Of Testis, Nos

Malignant Neoplasm Of Testis, Unspecified

Malignant Tumour Of Testis

Testicle Cancer

Primary Malignant Neoplasm Of Testis

Kallmann Syndrome

Hypogonadism With Anosmia

Kallman'S Syndrome

Anosmic Hypogonadism

Anosmic Idiopathic Hypogonadotropic Hypogonadism

Hypogonadotropic Hypogonadism And Anosmia

Hypogonadotropic Hypogonadism-Anosmia Syndrome

Olfacto-Genital Pathological Sequence

Familial Hypogonadism With Anosmia

Kallman Syndrome

Dysplasia Olfactogenitalis Of De Morsier

Kallmann'S Syndrome

Congenital Hypogonadotropic Hypogonadism With Anosmia

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus EPPIN RGD RGD:1597722
Mus musculus EPPIN MGD MGI:1922776